Version: 8.0.0
Date: Tue Jan 28 2025
ERCC3
Homo sapiensHGNC:3435
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ERCC3

Species
Homo sapiens
Symbol
ERCC3
Name
ERCC excision repair 3, TFIIH core complex helicase subunit
Synonyms
  • basic transcription factor 2 89 kDa subunit
  • BTF2
Biotype
protein coding gene
Automated Description
Enables 3'-5' DNA helicase activity and ATP hydrolysis activity. Involved in several processes, including DNA metabolic process; hair cell differentiation; and transcription initiation at RNA polymerase II promoter. Located in nucleoplasm. Part of transcription factor TFIID complex; transcription factor TFIIH core complex; and transcription factor TFIIH holo complex. Implicated in lung non-small cell carcinoma; photosensitive trichothiodystrophy 2; trichothiodystrophy; xeroderma pigmentosum; and xeroderma pigmentosum group B. Biomarker of Alzheimer's disease; Down syndrome; and colorectal cancer.
RGD Description
This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11274
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          ERCC3 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            ERCC3 role
            ERCC3 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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